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rs377177061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377177061(C;T)
Make rs377177061(T;T)
ReferenceGRCh38 38.1/142
Chromosome4
Position15502879
GeneCC2D2A
is asnp
is mentioned by
dbSNPrs377177061
dbSNP (classic)rs377177061
ClinGenrs377177061
ebirs377177061
HLIrs377177061
Exacrs377177061
Gnomadrs377177061
Varsomers377177061
LitVarrs377177061
Maprs377177061
PheGenIrs377177061
Biobankrs377177061
1000 genomesrs377177061
hgdprs377177061
ensemblrs377177061
geneviewrs377177061
scholarrs377177061
googlers377177061
pharmgkbrs377177061
gwascentralrs377177061
openSNPrs377177061
23andMers377177061
SNPshotrs377177061
SNPdbers377177061
MSV3drs377177061
GWAS Ctlgrs377177061
Max Magnitude0
ClinVar
Risk rs377177061(T;T)
Alt rs377177061(T;T)
Reference Rs377177061(C;C)
Significance Pathogenic
Disease Meckel-Gruber syndrome
Variation info
Gene CC2D2A
CLNDBN Meckel-Gruber syndrome
Reversed 0
HGVS NC_000004.11:g.15504502C>T
CLNSRC ClinVar
CLNACC RCV000114178.1,